Varaico: Literature-Extracted Genetic Variants

PKHD1

1,102 papers

RefSeq Summary

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing...

Pfam Domains

TIGaa 259–335UCSCIPT/TIG domain

TIGaa 931–1012UCSCIPT/TIG domain

TIGaa 1019–1102UCSCIPT/TIG domain

TIGaa 1108–1192UCSCIPT/TIG domain

TIGaa 1197–1278UCSCIPT/TIG domain

TIGaa 1389–1480UCSCIPT/TIG domain

Gene Aliases

HGNC Name

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

HGNC Previous Symbol

TIGM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138694.4

p.R1369H

c.4106G>A

Surrounding Variants

1 paper

NM_138694.4

p.R1369insFs

c.4105_4106insC

2 papers

NM_138694.4

p.R1369C

c.4105C>T

1 paper

NM_138694.4

p.M1373R

c.4118T>G

1 paper

NM_138694.4

p.M1373insFs

c.4118dupT

1 paper

NM_138694.4

p.G1374R

c.4120G>C

1 paper

NM_138694.4

p.G1374R

c.4120G>A

1 paper

NM_138694.4

p.G1374V

c.4121G>T

2 papers

NM_138694.4

p.Y1364C

c.4091A>G

1 paper

NM_138694.4

p.L1359_E1360insFs

c.4075_4078dup4

1 paper

NM_138694.4

p.E1360fs

c.4078_4079fs

1 paper

NM_138694.4

p.V1380A

c.4139T>C

1 paper

NM_138694.4

p.L1382V

c.4144C>G